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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a girl who presented with gastrointestinal upsets with nausea, vomiting and occasional hypoglycaemic attacks during childhood is reported. At about 5 years of age generalised muscular weakness with severe amyotrophy, cardiomegaly with a cardiothoracic ratio of 0,63, left ventricular hypertrophy on electrocardiography and left ventricular dilatation with hypokinesis on echocardiography were observed. A few weeks later she developed severe cardiac failure. Muscle biopsy showed muscular dystrophy with lipid infiltration due to carnitine deficiency )serum carnitine 9 nmoles/ml, normal values: 46 +/- 6,9 nmoles/ml; muscle carnitine 0,27 nmoles/mg, normal values: 3,0 +/- 0,79 nmoles/mg fresh frozen weight). She improved rapidly with carnitine chlorhydrate and a diet low in lipids and high in medium chain triglycerides. Regression of muscular symptoms and cardiac failure was observed. After 13 months follow-up with no tonicardiac therapy she is much improved; the signs of heart failure have disappeared, the cardiothoracic ratio is now 0,55 and the electrocardiogramme and echocardiogramme are normal.
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PMID:[Lipidic myopathy with severe cardiomyopathy caused by a generalized carnitine deficiency. Favourable course during carnitine hydrochloride treatment]. 11 7

Pneumoencephalography was carried out in 23 patients with various muscular disorders, i.e. spinal neurogenic atrophy, classified as Wohlfart-Kugelberg-Welander's and Charcot-Marie-Tooth's diseases, and muscular dystrophy. EEG-registrations and psychological testing were carried out. Pneumoencephalography revealed ventricular enlargement and cortical changes in 17 out of 23 cases. Changes were found in all three groups studied; cortical changes were, however, only found in the neurogenic atrophy groups. Cases where there clearly might be exogenous causes for ventricular dilatation were excluded. The changes found, therefore, supposedly form an integral part of the disease process. It should be emphasized that the precaution does not entirely exclude a traumatic etiology in some cases. EEG-registrations (pathological in three out of 20 cases) as well as psychological evaluation (pathological in six out of 14 cases) supported the assumption of organic brain changes. Pneumoencephalography, however, seemed to be the most sensitive parameter for unveiling brain involvement in these disorders.
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PMID:Pneumoencephalographic findings in various primary and secondary muscular disorders. 126 63

Becker muscular dystrophy is associated with abnormal cardiac features in about 75% of cases; up to one-third will develop ventricular dilatation leading to congestive cardiac failure. As this form of muscular dystrophy is relatively benign, failure to respond to medical treatment warrants assessment for cardiac transplantation.
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PMID:Cardiac transplantation in Becker muscular dystrophy. 148 41

Clincopathological features of Fukuyama type congenital muscular dystrophy (FCMD), a combination of brain malformation and muscular dystrophy with facial muscle and CNS involvement and high prevalence in Japan, are reviewed. Evidence of progressive dystrophy, negative correlations between muscle enzyme levels and age and CT numbers of muscle and age, are presented. Skeletal muscle histopathology is reviewed. Febrile illness-induced transient exacerbation of muscle weakness is reported. Characteristic brain malformations, e.g. micropolygyria, other dysgenesis, are reviewed. Their severity correlated with maximal mental and motor function. The etiology and significance of low density areas (LDA) in white matter on CT, possibly reflecting delayed or abnormal myelination, and ventricular dilatation are discussed. Spontaneous LDA improvement makes hydrocephaly unlikely. Ophthalmological differential diagnosis from Santavouri disease and Walker-Warburg syndrome, characterized by visual disturbance/glaucoma and microphthalmia/anterior chamber defects, respectively, is discussed. A single defective gene, manifesting as a metabolic error, may produce CNS and ocular defects as well as muscle degeneration in FCMD.
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PMID:Fukuyama type congenital progressive muscular dystrophy. 195 53

A 3-year-old Japanese boy with congenital muscular dystrophy (CMD) and normal intelligence is presented. He had not learned to crawl, shuffled on his bottom, and could not walk. At 7 months, his CT-scan had showed periventricular low density and mild ventricular dilatation, and spike or sharp wave discharges were seen on EEG. At three years of age, his CT-scan revealed wide-spread hypodensity in the cerebral white matter, EEG showed multifocal discharges, and MRI showed abnormal high density area in the cerebrum on spin echo image. These findings suggest the existence of an intermediate form of CMD between the Fukuyama type of CMD and the classical occidental type of CMD. The combination of repeated CT and MRI scans seems necessary for the evaluation of CNS abnormalities in CMD.
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PMID:Changes in cerebral white matter in a case of congenital muscular dystrophy (non-Fukuyama type). 229 Apr 77

Walker-Warburg syndrome (WWS) is an autosomal recessive disorder manifest by characteristic brain and eye malformations. We reviewed data on 21 of our patients and an additional 42 patients from the literature. From this review, we expand the phenotype to include congenital muscular dystrophy (CMD) and cleft lip and/or palate (CLP), and revise the diagnostic criteria. Four abnormalities were present in all patients checked for these anomalies: type II lissencephaly (21/21), cerebellar malformation (20/20), retinal malformation (18/18), and CMD (14/14). We propose that these comprise necessary and sufficient diagnostic criteria for WWS. Two other frequently observed abnormalities, ventricular dilatation with or without hydrocephalus (20/21) and anterior chamber malformation (16/21), are helpful but not necessary diagnostic criteria because they were not constant. All other abnormalities occurred less frequently. Congenital macrocephaly with hydrocephalus (11/19) was more common than congenital microcephaly (3/19). Dandy-Walker malformation (10/19) was sometimes associated with posterior cephalocele (5/21). Additional abnormalities included slit-like ventricles (1/21), microphthalmia (8/21), ocular colobomas (3/15), congenital cataracts (7/20), genital anomalies in males (5/8), and CLP (4/21). Median survival in our series was 9 months. A related autosomal recessive disorder, Fukuyama congenital muscular dystrophy, consists of similar but less severe brain changes and CMD. It differs from WWS because of consistently less frequent and severe cerebellar and retinal abnormalities. We think that WWS is identical to "cerebro-oculo-muscular syndrome" and "muscle, eye, and brain disease."
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PMID:Diagnostic criteria for Walker-Warburg syndrome. 236 44

Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory. He had suffered from muscle weakness and atrophy since his birth. Serum CPK was markedly elevated. EMG and muscle biopsy proved dystrophic changes of the skeletal muscles. In addition, he manifested mental retardation and attacks of convulsion. EEG failed to elicit remarkable changes, but PEG represented ventricular dilatation. He died of respiratory insufficiency at age 12. His postmortem examination showed variegated anomalies in the nervous system. Extensive micropolygyria was present in the cerebrum and cerebellum accompanied by adhesions between the bilateral cerebral hemispheres. Assymmetry of the longitudinal fibers was pointed out in the pontine base. Anterior horn cells were atrophic and moderately depopulated. On the other hand, the second patient was an atypical F-CMD case in symptoms, signs and pathology. His grand-mothers on both father's and mother's sides wee first cousins. His three siblings showed no similar disorders. His mother developed slight gestational toxicosis in the sixth and seventh months of pregnancy. His muscle weakness, contracture of the bilateral hip-joints and clubfoot had been observed since his birth. Physical and neurological examinations at age 6 showed deformity of the skull, myopathic face, macroglossia, high-arched palate, pigeon chest, scoliosis of the thoracic spine. In addition, generalized muscular atrophy, hypotonia and areflexia were recognized. Pseudohypertrophy of the muscles was absent. Sensation was intact to all modalities. Serum CPK and LDH were moderately increased.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases]. 652 23

A preliminary study of nuclear magnetic resonance imaging of the brains of four normal children (36 weeks' postmenstrual age to 5 years) showed long T(1) areas in the periventricular region of the neonate as well as evidence of progressive myelinisation with increasing age. Study of 18 patients of 40 weeks' postmenstrual age to 4 years showed an apparent deficit in myelinisation in an infant with probable rubella embryopathy and another with ventricular dilatation of unknown cause. Abnormal scans were obtained in an infant with congenital muscular dystrophy, and abnormalities were visualised at the lateral ventricular margins in a case of acute hydrocephalus after shunt blockage. Periventricular regions of increased T(2) were seen in a term infant aged 4 days after severe birth asphyxia and convulsions.Nuclear magnetic resonance imaging appears to provide a unique demonstration of myelinisation in vivo and shows changes in pathological processes of importance in paediatric practice.
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PMID:Nuclear magnetic resonance imaging of the brain in children. 681 Sep 94

The physiatrist can now be instrumental in prolonging the survival of individuals with neuromuscular disease by using respiratory muscle aids. As a result, morbidity and mortality from cardiomyopathy are likely to increase for patients with generalized myopathies. One hundred consecutive patients with dystrophin-deficient muscular dystrophy and a mean age of 17.2 yr (range, 5-41) satisfied criteria for having dilated cardiomyopathy (DCM) and received digitalis and diuretics. Nine of the 14 patients were symptom-free, despite left ventricular ejection fractions (LVEFs) of 25-40%. The five patients with symptomatic heart failure had severe ventricular dilatation, with LVEFs < 25%. Two of the five patients died of heart failure within 1 yr. For the remaining three patients, we evaluated the addition of the angiotensin-converting enzyme (ACE) inhibitor enalapril and, subsequently, the use of beta-blockers to the therapeutic regimen. Addition of these medications, never before attempted in the management of cardiomyopathy associated with generalized myopathic disease, complemented each other in relieving symptoms and reversing signs of congestive heart failure and DCM. We conclude that the combination of ACE inhibitor and beta-blocker deserves further exploration for inclusion in any management regimen for the treatment of muscular dystrophy-associated cardiomyopathy.
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PMID:A management trial for Duchenne cardiomyopathy. 757 10

We report the clinical and neuroradiological follow-up of 2 Italian sisters, 10 and 6 years of age, affected by congenital muscular dystrophy (CMD) with divergent CNS involvement. In both, CMD was diagnosed by finding dystrophic alterations in muscle biopsy and muscular deficit at birth. The elder sister suffered also from marked intellectual deficit and epilepsy, as usually reported in children with Fukuyama CMD. In the same patient, at 2 years of age, CT scan showed severe hypodensity of cerebral white matter and severe ventricular dilatation of occipital horns. At 8 years of age, MRI also showed clearcut pachygyria mainly in the parietal and occipital lobes. MRI and CT scan at the same age showed improvement of the leukoencephalopathy and unchanged ventricular dilatation, as reported for patients with Fukuyama CMD. Unlike Japanese cases, however, she showed no progression in her muscular deficit and her muscle immunostaining of laminin M chain (merosin) was normal. The younger sister had normal mental development, never experienced epileptic fits and had always normal EEG. However, as often seen in classical CMD, her CT scan showed moderate hypomyelination of cerebral white matter and mild dilatation of lateral ventricles. MRI did not show any other brain abnormalities. Sequential CT scan at 2, 4 and 6 years of age showed improvement of the leukoencephalopathy. Her muscular deficit had a stationary clinical course. Her immunostaining of muscle merosin was moderately reduced. The finding of Fukuyama-like and classical CMD in 2 sisters indicates the possibility that different forms of CMD may be different expressions of the same genetic disease.
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PMID:Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up. 767 85


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